Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death.

病例报告 ： 一个先天性心脏缺陷家庭的新型 NKX2 - 5 突变 ，左心室非压实,传导病,心脏性猝死.

• 影响指数: 5.846
• 发表时间: 2021
• 来源期刊: Front Cardiovasc Med
• DOI: 10.3389/fcvm.2021.691203
• PMID: 34277740
• 文章类型: Case Reports
• 作者列表: Morlanes-Gracia P,Antoniutti G,Alvarez-Rubio J,Torres-Juan L,Heine-Suñer D,Ripoll-Vera T

关键词: NKX2-5; congenital heart disease; genetic; left ventricular non-compaction; sudden cardiac death

Abstract

The NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopathies. However, an overlapping phenotype is not frequent in the literature. We describe a family with a novel missense mutation in the NKX2-5 gene (p.Gln181Pro) with numerous antecedents with atrial septal defect (ASD), left ventricular non-compaction (LVNC), conduction disease, and sudden cardiac death (SCD).

摘要

NKX2-5基因编码对于心脏细胞分化和增殖至关重要的转录因子。它是人类中与先天性心脏病（CHD）相关的第一个基因，并且与传导障碍或心肌病有关。然而,重叠表型在文献中并不常见.我们描述了一个在NKX2-5基因中具有新的错义突变的家族（p。Gln181Pro）具有许多房间隔缺损（ASD）的前因，左心室压缩不全(LVNC),传导疾病，和心源性猝死（SCD）。